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Scientists have discovered the cause of a rare condition within a part of the genome that has been largely unexplored in medical genetics. A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or off genes, and in doing so they have found a key that could unlock other causes of rare conditions.

The finding, published in Nature Genetics, is a very rare case of a cause of disease that only results from changes outside the exome, the region of the genome that codes for genes. It is also the first time that changes have been shown to affect a gene—known as HK1—that does not normally have a role in the relevant body tissue—in this case, the pancreas.

Until now, scientists have typically sequenced the part of the genome that describes the genetic code of all genes in individuals with a rare disease. They do this looking for variants in the DNA that affects a protein known to have an important role in the disease-relevant organ. A good example is observed in neonatal diabetes, where genetic variants disrupt the function of the pancreatic protein insulin, causing high blood sugar levels.

Klunk and colleagues identify signatures of natural selection imposed by Yersinia pestis and demonstrate their effect on genetic diversity and susceptibility to certain diseases in the present day.

This could give more immunity to viruses with the gene they found helped people survive the black death.

“We all think that COVID-19 was insane and completely changed the world and our societies,” Barreiro says. “COVID has a mortality rate of about 0.05% – something like that. Now try to project – if it’s even possible – a scenario where 30 to 50% of the population dies.”

Now a new study, published Wednesday in the journal Nature, shows that the Black Death altered more than society: It also likely altered the evolution of the European people’s genome.

Continue reading “Black Death survivors gave their descendants a genetic advantage — but with a cost” »

The gene-silencing complex HUSH might be involved in complex disorders affecting the brain and neurons. However, its mechanism of action remains unclear. Researchers from the Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA) now uncover the in vivo targets and physiological functions of a component of the HUSH gene-silencing complex and one of its associated proteins.

The work, conducted in laboratory mouse models and human brain organoids, links the HUSH complex to normal brain development, neuronal individuality and connectivity, as well as mouse behavior. The findings are published in Science Advances.

The human silencing hub (HUSH) complex was recently identified to be of key importance for silencing repetitive genetic elements including transposons in mammals. The HUSH complex contains MPP8, a protein that binds the histone modification mark H3K9me3. Additionally, HUSH is known to recruit other proteins including the zinc finger protein MORC2.

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Continue reading “Blood Test #6 in 2022: Diet Composition (Part I)” »

Cancer research – and its impact on patient care – has made some significant strides in just the last 10 years. For example, the availability and affordability of sequencing genetic information has improved greatly – meaning researchers and doctors are now better able to get information about a person’s risk for certain cancers as well as what drugs might work best for cancer patients. Another major leap forward came with the approval of vaccines that help prevent infections from the human papilloma virus (HPV) that cause cervical cancers. Many other advances have occurred in the areas of targeted therapy, immunotherapy, and cancer screening technology.

Still, cancer remains a massive health problem that researchers across the United States and elsewhere are working tirelessly to solve. Many experts are hopeful that they can build on decades of learning and recent advances to move even more rapidly toward reducing the cancer burden.

We invited 10 American Cancer Society Research Professors to share their perspectives and predictions for how cancer research will evolve over the next 10 years – and what this might mean for patients. These 10 experts are among the very best in their field; the Society’s Research Professor grants are awards that go to a select group – researchers and doctors who have made seminal contributions that have changed the direction of basic, clinical, psychosocial, behavioral, health policy or epidemiologic cancer research.

She worked in top labs at Stanford and Harvard. Now she wants to disrupt a 100-Billion-Dollar market by rejuvenating your skin using genetic engineering.

The lone volunteer in a unique study involving a gene-editing technique has died, and those behind the trial are now trying to figure out what killed him.

Terry Horgan, a 27-year-old who had Duchenne muscular dystrophy, died last month, according to Cure Rare Disease, a Connecticut-based nonprofit founded by his brother, Rich, to try and save him from the fatal condition.

Although little is known about how he died, his death occurred during one of the first studies to test a gene editing treatment built for one person. It’s raising questions about the overall prospect of such therapies, which have buoyed hopes among many families facing rare and devastating diseases.

The controversial scientist freed this year from jail for illegal medical practices has relocated to Beijing for his proposed US$7.2 million project.